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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CYP17A1
Variant:
p.W313*
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CYP17A1
NM_000102.4:p.W313*
hg38:chr10:102833023 C>T
Frequencies & domains
Associated Papers
A late 17α-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation.
Guenego A et al.
Annales D'endocrinologie,
2015
25613935 (PubMed
)
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